Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a mult...
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder
About this item
Full title
Author / Creator
Iwata-Otsubo, Aiko , Skraban, Cara M. , Yoshimura, Atsunori , Sakata, Toyonori , Alves, Cesar Augusto P. , Fiordaliso, Sarah K. , Kuroda, Yukiko , Vengoechea, Jaime , Grochowsky, Angela , Ernste, Paige , Lulis, Lauren , Nesbitt, Addie , Tayoun, Ahmad Abou , Gray, Christopher , Towne, Meghan C. , Radtke, Kelly , Normand, Elizabeth A. , Rhodes, Lindsay , Seiler, Christoph , Shirahige, Katsuhiko and Izumi, Kosuke
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
General transcription factor IIIC subunit 5 (
GTF3C5
) encodes transcription factor IIIC63 (TFIIIC63). It binds to DNA to recruit another transcription factor, TFIIIB, and RNA polymerase III (Pol III) to mediate the transcription of small noncoding RNAs, such as tRNAs. Here, we report four individuals from three families presenting with a mul...
Alternative Titles
Full title
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder
Authors, Artists and Contributors
Author / Creator
Skraban, Cara M.
Yoshimura, Atsunori
Sakata, Toyonori
Alves, Cesar Augusto P.
Fiordaliso, Sarah K.
Kuroda, Yukiko
Vengoechea, Jaime
Grochowsky, Angela
Ernste, Paige
Lulis, Lauren
Nesbitt, Addie
Tayoun, Ahmad Abou
Gray, Christopher
Towne, Meghan C.
Radtke, Kelly
Normand, Elizabeth A.
Rhodes, Lindsay
Seiler, Christoph
Shirahige, Katsuhiko
Izumi, Kosuke
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2974006381
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2974006381
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-024-02656-3
